Just Another Day (Update Continued)

Hello, everybody!

It's been another crazy day. Maisie had a GP appointment, a meeting with the endocrinologist, a neurology followup, dialysis, and physical therapy. We decided to take Maisie in for dialysis once a week or so, mostly as a precaution while she struggling with muscular issues. In the beginning of December I rattled off a list of tests we were hoping to perform, with the hope of coming to a more finite conclusion about Maisie's hypotonia/atrophy. While we followed through with some of these things, I didn't want to go into detail about the tests. It didn't seem very, well, Christmassy. But the holidays are over and it's time I shared with you what we've come up with.

Maisie has had two MRIs in her life, and she HATES them. Both times were nightmares. Absolutely horrible. They scared her half to death. But they were informative, and at least one of them saved her life. I did not want to have to subject her to another MRI, but after her preliminary neurological exam (a battery of fairly simple, mostly physical tests) we decided that an MRI had to be the next step. The MRI came up with two irregularities, one of which has been there her entire life and we believe contributes to her gastrointestinal dysfunction. The other seemed to be new, but in looking back at her other two scans we realized it had been there, though much smaller, since her first MRI at eight months old and was also present in her MRI at two and a half years old. The neurologist is under the impression that this is the cause of the muscular problems. She needed to do some research and consult her colleagues, and promised to get back to us in under two weeks. With the neurologist we have also been discussing her seizures, and have been instructed to keep a seizure journal, with video recordings whenever possible, and to make note of any changes in her seizing. Meanwhile, we took Maisie to an endocrinologist, who she has been seeing regularly since. The endocrinologist has done many different tests, including a 24-hour urine collection test, ACTH stimulation test, and dexamethasone suppression. They've come up with low levels of the hormone cortisol. The more I research adrenal insufficiency, the more I think this is what we're dealing with. Symptoms include weakness, fatigue, kidney failure, weight loss, among others. These are all things Maisie's suffers from. To prove this theory, the endocrinologist wants to test for dehydration, sodium levels, and hypoglycemia. We have also been seeing an orthopedist. Remember when I said Maisie's problem isn't exactly orthopedic? Yeah, that was me displaying my utter lack of real knowledge in the area of medicine. Maisie's problem is exactly orthopedic. Tomorrow, Maisie is scheduled to do a muscle biopsy in the hope that we will be able to determine once and for all what kind of muscular dystrophy we're dealing with: hypotonia or atrophy.

In other news, she has been seeing the GP once every two weeks (at least) to get records on her general health. We need them to be as recent as possible and updated as much as possible, particularly in light of all the tests and samples and biopsy we've been subjecting the poor dear to. We want to know right away if she has a bad reaction to anything we are doing.

I just want to quickly touch upon her vision problems. I have mentioned that Maisie has bad sight many times, but I never really went into detail and I've been asked about it a lot. So here's the deal: the muscles in Maisie's eyes are weak, so they don't expand and contract the way it should. A normal person's pupils get larger in the dark and smaller in brightness to allow more or less light in to the retina. Maisie's eyes don't expand as far as they should, so she can't see in the dark the way you probably can. Her cornea is also too thick, so it can't flex to change her focus as quickly as it should. This happens to everyone as they get older, it's called presbyopia, but it seems the process is accelerated in Maisie.

This testing is difficult. It often leaves her sore and bruised. The muscle biopsy is scaring the hell out of her, and I anticipate having to sleep with her tonight. She is very susceptible to high stress levels and it causes pretty intense, vivid nightmares when she's worried about something. Lately she's been having nightmares accompanied by nocturnal (sleeping) seizures. Her whole life we've had a visual baby monitor when she sleeps, in case of seizures or other dangerous activity. She also still sleeps in a sort of crib (really a child-sized bed with padded wooden railing things made by a carpenter friend of ours) again so that if she seizes or has some other kind of distress, she does not fall out of bed and hurt herself.

Last thing: a couple of people have asked me about food allergies. So far, the only one Maisie's had is a bizarre sort of inability to digest milk or yogurt. She'd eat it, it would just kind of hang out for a bit, and then she'd puke it up, almost unchanged. For four months she had hormone therapy, meaning a doctor injected lactase into her twice a week, and after six weeks or so the problem went away. This was done as part of an experiment into pediatric hormone therapy. The doctor was only guessing that the injections would make a difference. It seems that they did. Or maybe not. She may have grown out of this intolerance. Hard to know.

I'm off to put Maisie-moo to bed (and probably me too). I'll update again after the muscle biopsy tomorrow! Wish us luck!

Some people!

So let's all collectively laugh at this lovely email I received from two lovely women. First, a little background: I don't know if I've mentioned this before, but on Thursdays and some Fridays in the afternoon I nanny two brothers, an eight-year-old and an eleven-year-old. I've been taking care of them literally since the oldest was in diapers when they moved in next door, and nannying for years before Maisie was born. I love these guys. I didn't want to stop, even with all her health complications, so whenever I can my mom takes Maisie wherever she needs to go (be it the doctor or the aquarium or the zoo...they have some cool outings) and for three hours I take care of Nathan and Joshua. Well, it so happens that I took both boys on yesterday and today. Nathan has a group project he's working on for school, and on both days a little girl and a little boy came here on the bus with him and Joshua. On Thursday, I made chocolate-chip zucchini bread (recipe here although I tweaked it a while ago for Maisie's needs and so it's even healthier than that recipe) and on Friday I made ricotta cheese power Oreos (I can't find the recipe online so I guess I'll have to post it for y'all later). I bake healthy food in disguise like this all the time, I love it. All these things taste like regular chocolate chip cake or Oreos but are actually surprisingly good for you, full of veggies and protein and stuff. However, I did not feel the need to share all that information with these eight-year-old children when they came over and devoured cake and Oreos. And, lo and behold, I just got this delightful joint email from their mothers. We'll call them Healthy Heather and Judgmental Julia because I don't want to post their real names.

"Charlotte,

As I'm sure you know, Heather and I (Julia) are the mothers of Hannah and Jake, who came to your home yesterday and today with Nathan. Both of our kids came home with tales of chocolate cake and cookies that you plied them with upon returning to school.  They also relayed Nathan tell them you bake stuff like this for them all the time, really every time they come to your house they get a treat like this.

We understand that you only see these boys once a week and a little spoiling once in a while is fun. However, we strongly urge you not to make overindulging a habit, especially with young, impressionable boys with malleable minds and ideas. Simply put, this is not healthy! We know you have a daughter with special needs and a diet disorder, and the idea that you are regularly pouring this kind of, well, crap into her mouth is sickening. She needs healthy, clean food, not sugar and fat.

We are sorry if we are offending you in any way, but this sort of diet requires immediate intervention before your weight and health get completely out of hand. We urge strongly urge you to research the negative side affects of consuming too much sugar, sodium, fat, and cholesterol, and particularly, the keywords "childhood obesity," "heart disease," and "heart attack."

We only have your and your daughter's (and whatever other children are in your care) best interests in mind.

Concerned,
Healthy Heather and Judgmental Julia"

I have no words. Honestly. The email speaks for itself.

Hi from Ana & Carly

Hi, I'm Ana. Charlotte is our cousin on her father's side, and she has graciously allowed me to use her blog to spread the word of what happened to our good friend last year. As you may or may not know, Daisy Coleman recently published the story of her rape in Seventeen magazine, and it inspired our dear friend Carly to share the story of her best friend's assault this time last year. Names have been changed, but the point of our sharing this is to raise awareness about domestic violence and sexual abuse. The following are Carly's words:

I always knew my best friend Paige had a bad relationship with her parents, but I guess I never understood just how bad until she called me one night. She was at Brophy's, a popular senior boy on whom Paige had long harbored a crush, annual post-midterm party. When we scored invites, Paige was psyched. I'm not much of a partier and I just thought it might be fun to drop by for an hour or so before curling up with Pretty Little Liars and a big bowl of popcorn, but when I found out my boyfriend, a college freshmen in another state whom I never get to see, would be in town I decided to bail altogether and spend the night watching a movie with him (and the popcorn.) Around 1:00 in the morning, my boyfriend had left and I was just getting ready to go to bed when Paige called. I could tell she was in tears but all she said was, "Can you come get me?" I immediately woke my little sister Marnie (I have a seizure disorder and am not allowed to drive at certain times during my medicine cycle). We drove to the party and found Paige huddled on the front steps in her short pink dress, missing the moto jacket and scarf she had worn there. She was freezing. It was the middle of January, and I got the impression she had been sitting out there since she called me at least twenty minutes earlier. When she got in the car, she burst into tears and cried for ten straight minutes. Finally, she told me what happened. Brophy's older brother Sean had gotten very drunk at the party and locked her in the bathroom in the dark for half an hour. When he finally returned, his friends, also drunk, duct-taped her mouth shut and pinned her down in the tub while Sean raped her. As soon as she told me this I insisted she call her parents, but she wouldn't. She didn't think they'd believe her. So Marnie and I drove her to the hospital while I called my mom, who waited with us while Paige completed a rape kit. My mom decided to call Paige's parents without telling her, and they were terrified. They were also in Japan. It turned out that her parents, who are both very high up executives for a high-end makeup line that shall remain nameless, were sent to Japan to start a new branch of their company. They were supposed to be gone for two and a half months, eight weeks, and then come back to normal. But something had gone wrong. My best friend's parents had been halfway across the world for almost five months and I had no idea. Paige and her little sister Grace are both in high school (Paige is 17, Grace is 14) and Paige had a job and a car. Their parents were sending them money and trying as hard as they could to get home fast, but somehow the girls and their parents had miscommunicated. Paige and Grace felt truly, completely abandoned. It was awful to see. But they were trapped. Their parents couldn't come home without quitting their jobs. So Paige and Grace moved in with us. Paige started therapy. And a court case.

Sean's family is very wealthy. He was attending his dream school with a stellar future and we knew his parents would do anything to keep him from getting a bad rep that would damage that potential. We never guessed that they would pin it all on Tyler, Paige's ex-boyfriend, who also happened to be at the party. It was no secret from anyone that Paige and Tyler had a nasty split about two months ago, but that was over now. They were fine. Not friends, exactly, but fine. But their bad history meant the judge believed he could have been the rapist. His DNA even came up in the rape kit. No one listened to Paige's insistence that Tyler had nothing to do with it. Finally, the judge made his decision. Tyler was convicted, and Paige had a choice. Let Tyler take the blame and go to juvie, or refuse to press charges and let Sean off the hook completely.

She let him go. Now, a year later, we are trying to reopen the case and get Sean convicted of the crime he committed, but it hasn't been easy. Although we are not asking for money, donations, support, or anything like that we want to spread the word about the way rape cases are treated in the justice system. This is not fair. This is not good. A boy capable of the unspeakable is allowed to roam the campus of college without a care in the world. Please spread this around to raise awareness, and please pray for Paige!

Thank you for reading that. It means so much to Paige to know that her voice is being heard.
Ana

Quick update

Hi guys!

We've had a VERY busy day and just got home from the RDS office. Maisie plopped down on the couch for half an hour of Doc McStuffins while I got dinner ready, and she fell asleep. I'm letting her stay there. Poor kid had a hard day. Here was her schedule for today, and it's been pretty similar in terms of time for like three weeks:

9:00 AM: Arrival at preschool

11:00: Early pickup from school, endocrinologist office

11:40: Collect paperwork from GP, grab some early lunch

12:30 PM: Speech pathology

I think I forgot to mention this, but we started speech pathology when we changed her diet and physical therapy routine because when the atrophy/hypotonia symptoms started to get bad, one of them one delayed speech, by which I mean her enunciation is more limited. 

2:00: Physical therapy

4:00: Late naptime

4:30: Wake up too early from nap because of nightmares

5:00: RDS

5:40: some test results come in, nurse wants to draw blood

6:00: some weird physical tests by another RDS

6:30: off too the chiropractor, late for the appointment

7:30: grocery shopping

8:45: home again, home again, hippity hop

It's hard to say whether the new physical therapy and diet routine have helped much, at this point anyway. Our doctors have projected two months before we start seeing significant improvement, so we're going to wait that long before making any more changes. She certainly hasn't gotten any worse, with the exception of falling down the stairs yesterday morning. But of course, that could be a fluke. We have almost decided to back off on rare disease testing, but the RDS wants to rule out three (four?) mitochrondrial diseases before we lay off her. Let me see if I can list them without checking my Notebook of Knowledge: NARP (neuropathy, ataxia, retinitis pigmentosa), MNGIE (nope, got to check the book -- Mitochondrial Neurogastrointestinal Encephalopathy syndrome), and MERRF (Myoclonic Epilepsy with Ragged Red Fibers). I can't tell you anything about these diseases because I refuse to look them up. I don't want to scare myself in case she tests negative. So once we complete those tests (two are in the works already), we will hopefully not see the RDS for a while. So, wish us luck in testing, and send thoughts of rest and strength to Maisie!

We're still not super clear about what is really the problem here: hypotonia, resurfacing after her infancy, or a brand-new issue with muscular atrophy. I know I've said both, and been fairly sure about both, but our doctors keep vacillating. At this moment, we're stuck. We just don't know. She did have a lot of issues with hypotonia as a baby, because of the damage neural connections between her brain and her muscles. That's part of the reason she didn't start walking for so long. Her muscles were very, very weak for a very long time. 

Maisie just woke up and I need to get some food into her and get her to bed for real. It's been a long day and a late night. I'll finish filling y'all in tomorrow.

Whew! We're back!

Hello everybody!

I'm sorry we've been so absent -- it's been quite the few weeks!

Just after Christmas Maisie was re-admitted to the hospital, where we started some pretty heavy-duty testing. My brain is spinning with medical facts and diagnoses, so I'm going to spare you most of the medical jargon. Basically, we've been meeting with a rare disease specialist who was concerned that, with all the trauma and problems associated with Maisie's birth and first few years of life, a rare disease was overlooked. We've been testing and testing and testing but so far we have not found anything definite. There is still a ways to go, so we'll see.

Moving forward, we needed to get a handle on Maisie's muscular problems so she could return to school and normal life. On January 3rd we started a new physical/occupational therapy as well as a new diet plan. We are hoping that a high-protein diet will help to counteract some of the atrophy she seems to be experiencing. To give you an idea, most kids ages 4-8 need 19 grams of protein per day. Maisie is getting 30 grams. To do that we supplement almost every single meal with a protein shake. We're trying to only give her homemade shakes (peanut butter, bananas, whey protein, egg, cashews, coconut milk, etc) but she does get a Breakfast Essentials or PediaSure occasionally.

In terms of physical therapy, she is mostly working with her therapist, Dr. L, who is wonderful. Some days she is very weak and uses a Leckey Totstander, exactly like the one below). We are hoping to order a second one that can be kept in her classroom.

I just quickly want to address a couple of things people have asked about before I go to sleep. I've heard from a lot of parents, just as we did with the dialysis, that their experiences with hypotonia don't match up with what I've said about Maisie. I know it seems like this came on very quickly, but in truth she has been getting weaker and weaker for some time now. In fact, looking back at photographs and being honest with myself, she's been slowly becoming more lethargic and "floppy" since before she turned three. I just wasn't willing to realize how much trouble she was in until she could hardly stand by herself anymore. It's true that hypotonia is usually present from birth, and that is not the case with Maisie. With normal hypotonia cases it doesn't make any sense that a diet change would help anything. But her tests (which I really don't want to go into in detail about right now) show that we might see some improvement with a high protein intake and lots of physical exercise. Actually, I should be calling her condition muscular atrophy instead of hypotonia. Her diagnosis was changed two or three weeks ago but out of bad habit we are all still calling it hypotonia. It's unprofessional, I know.

I'm sorry we've been distant, and I promise we'll be in touch more.
Love and hugs from Charlotte!